UV signature mutations.
UV signature mutations.
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DOI：
10.1111/php.12377
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发表时间：
2015-01
影响因子：
3.3
通讯作者：
Brash DE
中科院分区：
文献类型：
--
作者：
Brash DE
对完整的肿瘤基因组和外显子组进行测序激发了癌症领域对识别肿瘤致癌物的突变特征的兴趣。这篇综述和荟萃分析讨论了签名及其正确使用。我们首先区分了诱变原的典型突变——偏离碱基变化的随机分布，以创建该诱变原的典型模式——和特征突变的子集，这是该诱变原独有的，允许从突变向后推断到诱变原。为了验证紫外线特征突变，我们收集了暴露于UVC、UVB、UVA或太阳模拟器光（SSL）的细胞的文献数据集，并测试了典型的紫外线突变特征作为聚类数据集的标准。经证实的紫外标记为：≥60%的突变是C→T在双嘧啶位点，≥5%的CC→TT。其他典型特征，如对非转录链或3'嘧啶突变的偏爱，应用有限。最稳健的分类器将这些特征与非紫外规范突变的罕见性标准相结合。此外，针对特定紫外波长提出的几个特征仅限于特定基因或物种；紫外线诱导的非特征突变可能导致黑色素瘤BRAF突变；与阳光有关的皮肤肿瘤的诱变剂在各大洲之间可能有所不同。
Sequencing complete tumor genomes and exomes has sparked the cancer field's interest in mutation signatures for identifying the tumor's carcinogen. This review and meta-analysis discusses signatures and their proper use. We first distinguish between a mutagen's canonical mutations – deviations from a random distribution of base changes to create a pattern typical of that mutagen – and the subset of signature mutations, which are unique to that mutagen and permit inference backward from mutations to mutagen. To verify UV signature mutations, we assembled literature datasets on cells exposed to UVC, UVB, UVA, or solar simulator light (SSL) and tested canonical UV mutation features as criteria for clustering datasets. A confirmed UV signature was: ≥60% of mutations are C→T at a dipyrimidine site, with ≥5% CC→TT. Other canonical features such as a bias for mutations on the non-transcribed strand or at the 3' pyrimidine had limited application. The most robust classifier combined these features with criteria for the rarity of non-UV canonical mutations. In addition, several signatures proposed for specific UV wavelengths were limited to specific genes or species; non-signature mutations induced by UV may cause melanoma BRAF mutations; and the mutagen for sunlight-related skin neoplasms may vary between continents.
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DOI：
10.1073/pnas.90.22.10529
发表时间：
1993-11-15
影响因子：
11.1
作者：
DUMAZ, N;DROUGARD, C;DAYAGROSJEAN, L
通讯作者：
DAYAGROSJEAN, L
DOI：
10.1016/0027-5107(90)90135-q
发表时间：
1990-10-01
期刊：
MUTATION RESEARCH
影响因子：
--
作者：
DROBETSKY, EA;GLICKMAN, BW
通讯作者：
GLICKMAN, BW
影响因子：
4.7
作者：
Dycaico, MJ;Stuart, GR;Provost, GS
通讯作者：
Provost, GS
DOI：
10.1073/pnas.0308531101
发表时间：
2004-03-23
影响因子：
11.1
作者：
Brunet, JP;Tamayo, P;Mesirov, JP
通讯作者：
Mesirov, JP
DOI：
10.1016/0027-5107(94)90025-6
发表时间：
1994-04-15
期刊：
MUTATION RESEARCH
影响因子：
--
作者：
COURTEMANCHE, C;ANDERSON, A
通讯作者：
ANDERSON, A